| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 11 | 687941 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 1992 | 1992 | |||||||
|
0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 3 | 192335441 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 7 | 44284206 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.040 | 11 | 681045 | inframe deletion | CTT/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 13 | 76996086 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |